Canonical Allele Identifier: CA1608613082
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585039_7585040delinsAT , CM000668.2:g.7585039_7585040delinsAT GRCh38
NC_000006.11:g.7585272_7585273delinsAT , CM000668.1:g.7585272_7585273delinsAT GRCh37
NC_000006.10:g.7530271_7530272delinsAT NCBI36
NG_008803.1:g.48403_48404delinsAT , LRG_423:g.48403_48404delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6448_6449delinsAT ENSP00000518230.1:p.Ile2150=
ENST00000379802.8:c.7777_7778delinsAT MANE Select ENSP00000369129.3:p.Ile2593=
ENST00000379802.7:c.7777_7778delinsAT ENSP00000369129.3:p.Ile2593=
ENST00000418664.2:c.5980_5981delinsAT ENSP00000396591.2:p.Ile1994=
NM_001008844.1:c.5980_5981delinsAT NP_001008844.1:p.Ile1994=
NM_004415.2:c.7777_7778delinsAT , LRG_423t1:c.7777_7778delinsAT NP_004406.2:p.Ile2593=
XM_011514323.1:c.6448_6449delinsAT XP_011512625.1:p.Ile2150=
NM_001008844.2:c.5980_5981delinsAT NP_001008844.1:p.Ile1994=
NM_001319034.1:c.6448_6449delinsAT NP_001305963.1:p.Ile2150=
NM_004415.3:c.7777_7778delinsAT NP_004406.2:p.Ile2593=
NM_004415.4:c.7777_7778delinsAT MANE Select NP_004406.2:p.Ile2593=
NM_001008844.3:c.5980_5981delinsAT NP_001008844.1:p.Ile1994=
NM_001319034.2:c.6448_6449delinsAT NP_001305963.1:p.Ile2150=